A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3019531



Internal ID15221435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21297054..21297054hg38UCSC Ensembl
chr12:21449988..21449988hg19UCSC Ensembl
chr12:21341255..21341255hg18UCSC Ensembl
chr12:21341255..21341255hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv475260
Supporting Variants
SamplesNA19240
Known GenesSLCO1A2
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nssv3019531
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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